TFR2
Summary: This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:604720 Ensembl IDEnsembl:ENSG00000106327 HGNC IDHGNC:HGNC:11762 PHARMGKB IDPA36477 Map Location7q22.1 | |||||
GO terms in TFR2
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Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0004998 | transferrin receptor activity |
| MF | NAS | GO:0004998 | transferrin receptor activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0033570 | transferrin transmembrane transporter activity |
| MF | IPI | GO:0039706 | co-receptor binding |
| BP | NAS | GO:0006826 | iron ion transport |
Gene expression in normal tissue: TFR2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TFR2
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Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-917937 | Iron uptake and transport |
| reactome | R-HSA-917977 | Transferrin endocytosis and recycling |
| wikipathways | WP2007 | Iron metabolism in placenta |
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Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TFR2
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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